Esophageal Achalasia – Causes, Symptoms and Treatment

What is Esophageal Achalasia?

Esophageal achalasia is a rare, chronic motility disorder of the esophagus. In this condition, the coordinated muscular contractions that normally propel food toward the stomach are disrupted, and the lower esophageal sphincter (LES) – the muscular valve between the esophagus and the stomach – fails to relax adequately during swallowing. As a result, food and liquids accumulate in the esophagus and cannot pass freely into the stomach. The condition affects men and women equally and most commonly develops between the ages of 30 and 60.

Causes

The exact cause of esophageal achalasia remains incompletely understood. The condition is thought to result from the progressive loss of ganglion cells in the myenteric plexus, a nerve network embedded in the esophageal wall. These nerve cells are responsible for coordinating the peristaltic movements of the esophagus and the relaxation of the lower sphincter.

• Autoimmune mechanisms: Evidence suggests that the immune system may mistakenly attack the nerve cells of the esophagus.
• Viral infections: Certain viral infections (e.g., herpesvirus) have been proposed as potential triggers.
• Genetic factors: Rare familial cases suggest a possible genetic predisposition.
• Secondary achalasia (pseudoachalasia): In rare cases, achalasia-like symptoms may be caused by tumors at the gastroesophageal junction or by systemic diseases such as Chagas disease (infection with Trypanosoma cruzi).

Symptoms

Symptoms of esophageal achalasia typically develop gradually over months to years. The most common symptoms include:

• Dysphagia: Difficulty swallowing both solid foods and liquids – this is the hallmark symptom.
• Regurgitation: Return of undigested food from the esophagus, particularly when lying down at night.
• Chest pain: A sensation of pressure or pain behind the breastbone (retrosternal pain).
• Weight loss: Unintentional weight loss due to difficulty eating adequate amounts of food.
• Heartburn: May occur, though true acid reflux is uncommon in achalasia.
• Cough and aspiration: Regurgitation of esophageal contents into the airways can cause chronic cough and aspiration pneumonia.

Diagnosis

Diagnosing esophageal achalasia requires a combination of tests, as its symptoms overlap with those of other esophageal conditions.

Esophageal Manometry

High-resolution manometry (HRM) is considered the gold standard for diagnosing achalasia. It measures pressure patterns within the esophagus and at the lower esophageal sphincter during swallowing. Characteristic findings include elevated resting LES pressure, incomplete or absent LES relaxation, and absent peristalsis in the esophageal body.

Barium Swallow

A barium esophagram (contrast swallow X-ray) typically reveals a dilated esophagus that tapers to a narrow point at the LES – a finding classically described as the bird-beak sign.

Endoscopy

Upper gastrointestinal endoscopy (EGD) is primarily used to rule out other causes such as tumors or strictures. In achalasia, the esophagus may appear dilated and contain retained food debris, with increased resistance when passing the endoscope through the LES.

Treatment

There is currently no cure for esophageal achalasia, as the lost nerve cells cannot regenerate. Treatment focuses on reducing the pressure in the lower esophageal sphincter and improving the passage of food into the stomach.

Pneumatic Dilation

In pneumatic dilation, a balloon catheter is passed endoscopically into the LES and inflated to stretch and disrupt the muscle fibers. This procedure is effective but may need to be repeated over time.

Laparoscopic Heller Myotomy

The Heller myotomy involves surgically cutting the muscle fibers of the LES through a minimally invasive laparoscopic approach. It is one of the most effective long-term treatment options and is often combined with an anti-reflux procedure (fundoplication) to prevent gastroesophageal reflux.

POEM (Per-Oral Endoscopic Myotomy)

POEM is a modern, minimally invasive endoscopic technique in which the LES muscle is cut from within, through a tunnel created in the esophageal wall. It has demonstrated excellent long-term outcomes and is available at specialized centers.

Botulinum Toxin Injection

Injection of botulinum toxin directly into the LES temporarily relaxes the sphincter muscle. This approach is mainly suitable for elderly patients or those who are not candidates for more invasive procedures, as the effect typically lasts only 6 to 12 months.

Medical Therapy

Calcium channel blockers and nitrates can temporarily reduce LES pressure but are generally less effective than interventional treatments and are associated with frequent side effects.

Prognosis and Follow-Up

Without treatment, esophageal achalasia tends to progress, leading to marked dilation of the esophagus (megaesophagus) and an increasing risk of aspiration pneumonia. With appropriate therapy, most patients experience a significant improvement in quality of life. Long-term follow-up is recommended, as patients with achalasia have a slightly elevated risk of developing esophageal cancer.

References

1. Vaezi MF, Pandolfino JE, Vela MF. ACG clinical guideline: diagnosis and management of achalasia. American Journal of Gastroenterology. 2013;108(8):1238-1249.
2. Eckardt VF, Aignherr C, Bernhard G. Predictors of outcome in patients with achalasia treated by pneumatic dilation. Gastroenterology. 1992;103(6):1732-1738.
3. Ponds FA, Fockens P, Lei A, et al. Effect of peroral endoscopic myotomy vs pneumatic dilation on symptom severity and treatment outcomes among treatment-naive patients with achalasia. JAMA. 2019;322(2):134-144.